Gene Gene information from NCBI Gene database.
Entrez ID 51343
Gene name Fizzy and cell division cycle 20 related 1
Gene symbol FZR1
Synonyms (NCBI Gene)
CDC20CCDH1DEE109FZRFZR2HCDHHCDH1
Chromosome 19
Chromosome location 19p13.3
miRNA miRNA information provided by mirtarbase database.
125
miRTarBase ID miRNA Experiments Reference
MIRT037711 hsa-miR-744-5p CLASH 23622248
MIRT708951 hsa-miR-3714 HITS-CLIP 19536157
MIRT708950 hsa-miR-6808-5p HITS-CLIP 19536157
MIRT708949 hsa-miR-6893-5p HITS-CLIP 19536157
MIRT708948 hsa-miR-940 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 10548110, 11459826, 11988738, 16921029, 17719540, 18662541, 20424596, 20802534, 21186364, 21241890, 21596315, 21986944, 22014574, 22632967, 22770219, 23708001, 24163370, 27653696, 31722219, 33961781
GO:0005634 Component Nucleus IDA 34788397
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
GO:0005654 Component Nucleoplasm TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603619 24824 ENSG00000105325
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UM11
Protein name Fizzy-related protein homolog (Fzr) (CDC20-like protein 1) (Cdh1/Hct1 homolog) (hCDH1)
Protein function Substrate-specific adapter for the anaphase promoting complex/cyclosome (APC/C) E3 ubiquitin-protein ligase complex. Associates with the APC/C in late mitosis, in replacement of CDC20, and activates the APC/C during anaphase and telophase. The A
PDB 4UI9 , 5L9T , 5L9U , 8TAR , 8TAU , 9GAW
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12894 ANAPC4_WD40 210 282 Anaphase-promoting complex subunit 4 WD40 domain Repeat
PF00400 WD40 303 341 WD domain, G-beta repeat Repeat
PF00400 WD40 345 386 WD domain, G-beta repeat Repeat
PF00400 WD40 433 471 WD domain, G-beta repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Isoform 2 is expressed at high levels in heart, liver, spleen and some cancer cell lines whereas isoform 3 is expressed only at low levels in these tissues. {ECO:0000269|PubMed:12797865}.
Sequence
MDQDYERRLLRQIVIQNENTMPRVTEMRRTLTPASSPVSSPSKHGDRFIPSRAGANWSVN
FHRINENEKSPSQNRKAKDATSDNGKDGLAYSALLKNELLGAGIEKVQDPQTEDRRLQPS
TPEKKGLFTYSLSTKRSSPDDGNDVSPYSLSPVSNKSQKLLRSPRKPTRKISKIPFKVLD
APELQDDFYLNLVDWSSLNVLSVGLGTCVYLWSACTSQVTRLCDLSVEGDSVTSVGWSER
GNLVAVGTHKGFVQIWDAAAGKKLSMLEGHTARVGALAWNAE
QLSSGSRDRMILQRDIRT
PPLQSERRLQGHRQEVCGLKWSTDHQLLASGGNDNKLLVWNHSSLSPVQQYTEHLAAVKA
IAWSPHQHGLLASGGGTADRCIRFWN
TLTGQPLQCIDTGSQVCNLAWSKHANELVSTHGY
SQNQILVWKYPSLTQVAKLTGHSYRVLYLAMSPDGEAIVTGAGDETLRFWNVFSKTRSTK
VKWESVSVLNLFTRIR
Sequence length 496
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cell cycle
Ubiquitin mediated proteolysis
Progesterone-mediated oocyte maturation
  Autodegradation of Cdh1 by Cdh1:APC/C
SCF-beta-TrCP mediated degradation of Emi1
APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1
Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase
Regulation of APC/C activators between G1/S and early anaphase
Phosphorylation of Emi1
Senescence-Associated Secretory Phenotype (SASP)
CDK-mediated phosphorylation and removal of Cdc6
Cyclin A:Cdk2-associated events at S phase entry
Transcriptional Regulation by VENTX
Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Developmental and epileptic encephalopathy 109 Pathogenic rs2512277062, rs2512277057, rs1002017728 RCV002464996
RCV002464997
RCV002464998
RCV002464999
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Autism Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cerebellar ataxia Conflicting classifications of pathogenicity ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Colon adenocarcinoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acromegaly Acromegaly Pubtator 30843342, 39201352 Associate
★☆☆☆☆
Found in Text Mining only
ACTH-Secreting Pituitary Adenoma Pituitary adenoma BEFREE 21595730
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 28143883
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia (AML-M2) Leukemia BEFREE 27374082
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 10408414, 10547575, 11753952, 12409641, 15639718, 16596173, 16991125, 18223216, 19748854, 20082476, 20534996, 23838140, 24933634, 29422640
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 15660698, 16596173, 16685438, 18197935
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 25908636
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 11555590
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer GWASCAT_DG 19011631, 31089142
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 21985494
★☆☆☆☆
Found in Text Mining only